NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)
|
rs7755898
|
0.00339
|
NM_182977.3(NNT):c.1817T>C (p.Val606Ala)
|
rs139379760
|
0.00044
|
NM_182977.3(NNT):c.1424C>T (p.Thr475Met)
|
rs141791856
|
0.00042
|
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter)
|
rs146124466
|
0.00032
|
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu)
|
rs142484434
|
0.00014
|
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)
|
rs193922538
|
0.00008
|
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)
|
rs104894138
|
0.00006
|
NM_000497.4(CYP11B1):c.799+5G>C
|
rs193922542
|
0.00006
|
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met)
|
rs375833424
|
0.00005
|
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp)
|
rs182489063
|
0.00005
|
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp)
|
rs61752786
|
0.00004
|
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)
|
rs104894068
|
0.00004
|
NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His)
|
rs765987481
|
0.00003
|
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln)
|
rs104894154
|
0.00003
|
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter)
|
rs879802265
|
0.00003
|
NM_000497.4(CYP11B1):c.421C>T (p.Arg141Ter)
|
rs775479837
|
0.00003
|
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg)
|
rs367833709
|
0.00002
|
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His)
|
rs104894155
|
0.00002
|
NM_000102.4(CYP17A1):c.297+2T>C
|
rs764723654
|
0.00002
|
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)
|
rs28934586
|
0.00002
|
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys)
|
rs764251434
|
0.00002
|
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln)
|
rs149881706
|
0.00002
|
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His)
|
rs61754278
|
0.00001
|
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln)
|
rs104894139
|
0.00001
|
NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys)
|
rs104894142
|
0.00001
|
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His)
|
rs752811843
|
0.00001
|
NM_000102.4(CYP17A1):c.1118A>T (p.His373Leu)
|
rs760695410
|
0.00001
|
NM_000102.4(CYP17A1):c.1216T>C (p.Trp406Arg)
|
rs104894143
|
0.00001
|
NM_000102.4(CYP17A1):c.1306G>A (p.Gly436Arg)
|
rs757083287
|
0.00001
|
NM_000102.4(CYP17A1):c.1319G>A (p.Arg440His)
|
rs777638364
|
0.00001
|
NM_000102.4(CYP17A1):c.287G>A (p.Arg96Gln)
|
rs104894153
|
0.00001
|
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro)
|
rs104894135
|
0.00001
|
NM_000497.4(CYP11B1):c.1128C>A (p.Tyr376Ter)
|
rs760880418
|
0.00001
|
NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg)
|
rs1412048304
|
0.00001
|
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)
|
rs764598023
|
0.00001
|
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)
|
rs104894069
|
0.00001
|
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)
|
rs267606755
|
0.00001
|
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)
|
rs779103938
|
0.00001
|
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)
|
rs1489638195
|
0.00001
|
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)
|
rs267601810
|
0.00001
|
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp)
|
rs140336749
|
0.00001
|
NM_000497.4(CYP11B1):c.595+1G>A
|
rs1264073726
|
0.00001
|
NM_000497.4(CYP11B1):c.596-2A>T
|
rs775946442
|
0.00001
|
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro)
|
rs387907573
|
0.00001
|
NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val)
|
rs387907572
|
0.00001
|
NM_182977.3(NNT):c.1880C>T (p.Ser627Leu)
|
rs41271081
|
0.00001
|
NM_182977.3(NNT):c.2778C>A (p.Ser926Arg)
|
rs1451092520
|
0.00001
|
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)
|
rs104894149
|
|
NM_000102.4(CYP17A1):c.1072C>T (p.Arg358Ter)
|
rs2134082367
|
|
NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn)
|
rs1423560123
|
|
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp)
|
rs1423560123
|
|
NM_000102.4(CYP17A1):c.1157_1161del (p.Val386fs)
|
|
|
NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter)
|
rs1060499582
|
|
NM_000102.4(CYP17A1):c.1193C>T (p.Ala398Val)
|
|
|
NM_000102.4(CYP17A1):c.1226C>T (p.Pro409Leu)
|
rs367833709
|
|
NM_000102.4(CYP17A1):c.1243+5G>A
|
rs1564777724
|
|
NM_000102.4(CYP17A1):c.1244-1G>C
|
|
|
NM_000102.4(CYP17A1):c.1246C>T (p.Arg416Cys)
|
|
|
NM_000102.4(CYP17A1):c.1263G>A (p.Ala421=)
|
|
|
NM_000102.4(CYP17A1):c.1283C>T (p.Pro428Leu)
|
rs104894145
|
|
NM_000102.4(CYP17A1):c.1301C>T (p.Pro434Leu)
|
|
|
NM_000102.4(CYP17A1):c.1318C>T (p.Arg440Cys)
|
|
|
NM_000102.4(CYP17A1):c.133_138delinsT (p.Arg45fs)
|
|
|
NM_000102.4(CYP17A1):c.1345C>T (p.Arg449Cys)
|
rs371825363
|
|
NM_000102.4(CYP17A1):c.1346G>A (p.Arg449His)
|
|
|
NM_000102.4(CYP17A1):c.1346del (p.Arg449fs)
|
|
|
NM_000102.4(CYP17A1):c.1371del (p.Trp458fs)
|
|
|
NM_000102.4(CYP17A1):c.1381C>T (p.Gln461Ter)
|
|
|
NM_000102.4(CYP17A1):c.1414C>T (p.Gln472Ter)
|
|
|
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)
|
rs556794126
|
|
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del)
|
rs756135168
|
|
NM_000102.4(CYP17A1):c.1486C>T (p.Arg496Cys)
|
rs1250463562
|
|
NM_000102.4(CYP17A1):c.1487G>A (p.Arg496His)
|
|
|
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)
|
rs121434319
|
|
NM_000102.4(CYP17A1):c.177del (p.Lys59fs)
|
|
|
NM_000102.4(CYP17A1):c.177dup (p.Tyr60fs)
|
|
|
NM_000102.4(CYP17A1):c.245C>A (p.Ala82Asp)
|
|
|
NM_000102.4(CYP17A1):c.298-2A>G
|
|
|
NM_000102.4(CYP17A1):c.321del (p.Asn107fs)
|
|
|
NM_000102.4(CYP17A1):c.327dup (p.Lys110Ter)
|
|
|
NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup)
|
rs1844148108
|
|
NM_000102.4(CYP17A1):c.336dup (p.Ala113fs)
|
|
|
NM_000102.4(CYP17A1):c.350_351del (p.Ser117fs)
|
|
|
NM_000102.4(CYP17A1):c.362G>A (p.Trp121Ter)
|
rs942376359
|
|
NM_000102.4(CYP17A1):c.418C>T (p.Gln140Ter)
|
|
|
NM_000102.4(CYP17A1):c.437-1G>A
|
|
|
NM_000102.4(CYP17A1):c.574dup (p.Asp192fs)
|
|
|
NM_000102.4(CYP17A1):c.580G>T (p.Glu194Ter)
|
rs1173000590
|
|
NM_000102.4(CYP17A1):c.601T>A (p.Tyr201Asn)
|
rs104894150
|
|
NM_000102.4(CYP17A1):c.632_633del (p.Lys211fs)
|
|
|
NM_000102.4(CYP17A1):c.666+2T>C
|
|
|
NM_000102.4(CYP17A1):c.667-13_667-10del
|
rs1844127277
|
|
NM_000102.4(CYP17A1):c.667-16_680del
|
|
|
NM_000102.4(CYP17A1):c.671del (p.Phe224fs)
|
|
|
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs)
|
rs1458440922
|
|
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter)
|
rs104894136
|
|
NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln)
|
|
|
NM_000102.4(CYP17A1):c.753+1G>A
|
rs1844126291
|
|
NM_000102.4(CYP17A1):c.806_810del (p.Ala269fs)
|
|
|
NM_000102.4(CYP17A1):c.869del (p.Asn290fs)
|
rs766331452
|
|
NM_000102.4(CYP17A1):c.887T>C (p.Ile296Thr)
|
|
|
NM_000102.4(CYP17A1):c.938G>A (p.Trp313Ter)
|
|
|
NM_000102.4(CYP17A1):c.946dup (p.Ala316fs)
|
|
|
NM_000102.4(CYP17A1):c.973AAG[2] (p.Lys327del)
|
|
|
NM_000102.4(CYP17A1):c.985_987delinsAA (p.Tyr329fs)
|
rs1844105842
|
|
NM_000102.4(CYP17A1):c.987C>G (p.Tyr329Ter)
|
|
|
NM_000102.4(CYP17A1):c.988GAG[1] (p.Glu331del)
|
|
|
NM_000102.4(CYP17A1):c.995T>C (p.Ile332Thr)
|
|
|
NM_000198.4(HSD3B2):c.1055_1056delinsAA (p.Thr352Lys)
|
rs1651920667
|
|
NM_000497.4(CYP11B1):c.1080del (p.Glu361fs)
|
|
|
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)
|
rs104894062
|
|
NM_000497.4(CYP11B1):c.1122-2A>G
|
|
|
NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val)
|
rs1816901292
|
|
NM_000497.4(CYP11B1):c.1136del (p.Gly379fs)
|
|
|
NM_000497.4(CYP11B1):c.1150_1153del (p.Arg384fs)
|
|
|
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)
|
rs758714890
|
|
NM_000497.4(CYP11B1):c.1200+1G>T
|
|
|
NM_000497.4(CYP11B1):c.1201-1G>A
|
rs1437397442
|
|
NM_000497.4(CYP11B1):c.1201-9C>A
|
|
|
NM_000497.4(CYP11B1):c.1342C>T (p.Arg448Cys)
|
rs1221010438
|
|
NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro)
|
rs28934586
|
|
NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln)
|
rs1447069098
|
|
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)
|
rs2130266157
|
|
NM_000497.4(CYP11B1):c.1379TGC[6] (p.Leu464_His465insLeu)
|
|
|
NM_000497.4(CYP11B1):c.1398+5G>C
|
rs1563867837
|
|
NM_000497.4(CYP11B1):c.1399-1G>C
|
|
|
NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter)
|
rs1554653675
|
|
NM_000497.4(CYP11B1):c.228del (p.Ile78fs)
|
|
|
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)
|
rs104894070
|
|
NM_000497.4(CYP11B1):c.317_344del (p.Leu106fs)
|
rs764418169
|
|
NM_000497.4(CYP11B1):c.360del (p.Arg120fs)
|
|
|
NM_000497.4(CYP11B1):c.395+1G>C
|
rs1554653514
|
|
NM_000497.4(CYP11B1):c.396-1G>A
|
|
|
NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter)
|
rs142484434
|
|
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter)
|
rs763195324
|
|
NM_000497.4(CYP11B1):c.715_731del (p.Phe239fs)
|
|
|
NM_000497.4(CYP11B1):c.740G>A (p.Trp247Ter)
|
rs866430018
|
|
NM_000497.4(CYP11B1):c.793C>T (p.Gln265Ter)
|
rs2130274854
|
|
NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg)
|
|
|
NM_000497.4(CYP11B1):c.853_854insTACT (p.Gln285fs)
|
rs2130273520
|
|
NM_000497.4(CYP11B1):c.907del (p.Ala303fs)
|
rs769310764
|
|
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)
|
rs104894061
|
|
NM_000497.4(CYP11B1):c.954+1del
|
|
|
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)
|
rs753774484
|
|
NM_000497.4(CYP11B1):c.955-2A>G
|
|
|
NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val)
|
rs1326688256
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000529.2(MC2R):c.349T>C (p.Ser117Pro)
|
|
|
NM_000529.2(MC2R):c.569T>G (p.Leu190Arg)
|
|
|
NM_001395413.1(POR):c.1405G>C (p.Val469Leu)
|
rs72557946
|
|